血管型エーラス・ダンロス症候群

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_000090.4(COL3A1):c.1762G>A (p.Gly588Ser)	COL3A1	Pathogenic/Likely pathogenic	2	189861891	189861891	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349853181
Deletion	NM_000090.4(COL3A1):c.1173del (p.Pro392fs)	COL3A1	Likely pathogenic	2	189858787	189858787	GT	G	criteria provided, single submitter	ClinGen:CA658796116
single nucleotide variant	NM_000090.4(COL3A1):c.1509+2T>C	COL3A1	Likely pathogenic	2	189859827	189859827	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA349852078
single nucleotide variant	NM_000090.4(COL3A1):c.712C>T (p.Arg238Ter)	COL3A1	Pathogenic/Likely pathogenic	2	189854843	189854843	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA349849007
single nucleotide variant	NM_000090.4(COL3A1):c.898-2A>G	COL3A1	Likely pathogenic	2	189856393	189856393	A	G	criteria provided, single submitter	ClinGen:CA349849966
single nucleotide variant	NM_000090.4(COL3A1):c.1303G>T (p.Gly435Cys)	COL3A1	Likely pathogenic	2	189859276	189859276	G	T	criteria provided, single submitter	ClinGen:CA349851630
single nucleotide variant	NM_000090.4(COL3A1):c.1421G>T (p.Gly474Val)	COL3A1	Likely pathogenic	2	189859523	189859523	G	T	criteria provided, single submitter	ClinGen:CA349851888
single nucleotide variant	NM_000090.4(COL3A1):c.1987G>A (p.Gly663Ser)	COL3A1	Likely pathogenic	2	189863409	189863409	G	A	criteria provided, single submitter	ClinGen:CA349854324
single nucleotide variant	NM_000090.4(COL3A1):c.2069G>A (p.Gly690Glu)	COL3A1	Likely pathogenic	2	189864057	189864057	G	A	criteria provided, single submitter	ClinGen:CA349840081
single nucleotide variant	NM_000090.4(COL3A1):c.2392-2A>C	COL3A1	Pathogenic	2	189867022	189867022	A	C	criteria provided, single submitter	ClinGen:CA349842571